Variant (rsID / SNP)
rs587776542
rs587776542 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NHLRC1. Location: chromosome 6, position 18,122,369. Clinical significance in the table: Pathogenic.
Reference-table entries
NHLRC1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 6:18122369
- Cytoband
- 6p22.3
- HGVS
- NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
Associated conditions / phenotypes
Epilepsy, progressive myoclonic 2b|Lafora disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.